Gene
COMT
catechol-O-methyltransferase
- HGNC 2228↗(opens in a new tab)
- Ensembl gene ENSG00000093010↗(opens in a new tab)
- NCBI Gene 1312↗(opens in a new tab)
Summary
- Cytogenetic location
- 22q11.21
- Coordinates
- Chromosome 22: 19,941,772–19,969,975 (GRCh38)
- Exons
- 6 exons across 28.2 kb
- Protein
- 271 amino acids
- MANE Select transcript
- ENST00000361682.11NM_000754.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How COMT is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.3 kb of the gene's 28.2 kb; 816 of those bases code for the protein.
Traits linked to COMT
The Human Phenotype Ontology lists these as features of the rare conditions COMT can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormal facial shape
- Bulbous nose
- Cleft palate
- Corners of eye widely separated
- Eye folds
- Flattening of the skull base
- Prominent nasal bridge
- Upward slanting of the opening between the eyelids
Show 19 more traits
- Wide nasal bridge
- Abnormal dentition
- Abnormality of the eyelid
- Abnormality of the skull
- Dental cavities
- Long face
- Long philtrum
- Short neck
- Zygomatic flattening
- Abnormal tooth enamel
- Abnormally small head
- Blockage of the rear opening of the nasal cavity
- Downward slanting of the opening between the eyelids
- Little lower jaw
- Multiple suture craniosynostosis
- Narrow mouth
- Retinal arteriolar tortuosity
- Short philtrum
- Tall shaped head
Abnormality of the digestive system
- Anorectal anomaly
- Constipation
- Absent anus
- Acid reflux
- Enlarged colon lacking nerve cells
- Feeding difficulties in infancy
- Gallstones
- Inguinal hernia
Show 3 more traits
Abnormality of the eye
- Drooping upper eyelid
- New blood vessel formation in cornea
- Posterior embryotoxon
- Abnormally small eyeball
- Clouding of the lens of the eye
- Cross-eyed
- Glaucoma
- Optic atrophy
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). COMT gene: catechol-O-methyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/comt
Dante Labs. COMT gene: catechol-O-methyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/comt
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